Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Autor: Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)

Abstract Background Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypoton

Externí odkaz: https://doaj.org/article/92ae34d47439495b8fb61f31cc49ae89

Recomendaciones de buenas prácticas para el diagnóstico genético de abortos espontáneos e interrupciones voluntarias del embarazo por presentar defectos congénitos

Autor: Martinez-Garcia, M., Gavin, E., Plaza, J., Perez-Aytes, A., Marin-Reina, P., Lorda-Sanchez, I., Ramos, C., Trujillo-Tiebas, M.J.

Publikováno v: In Clinica e Investigacion en Ginecologia y Obstetricia July-September 2016 43(3):104-109

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Mowat-Wilson syndrome:growth charts

Autor: Ivanovski I., Djuric O., Broccoli S., Caraffi S. G., Accorsi P., Adam M. P., Avela K., Badura-Stronka M., Bayat A., Clayton-Smith J., Cocco I., Cordelli D. M., Cuturilo G., Di Pisa V., Dupont Garcia J., Gastaldi R., Giordano L., Guala A., Hoei-Hansen C., Inaba M., Iodice A., Nielsen J. E. K., Kuburovic V., Lazalde-Medina B., Malbora B., Mizuno S., Moldovan O., Moller R. S., Muschke P., Otelli V., Pantaleoni C., Piscopo C., Poch-Olive M. L., Prpic I., Marin Reina P., Raviglione F., Ricci E., Scarano E., Simonte G., Smigiel R., Tanteles G., Tarani L., Trimouille A., Valera E. T., Schrier Vergano S., Writzl K., Callewaert B., Savasta S., Street M. E., Iughetti L., Bernasconi S., Giorgi Rossi P., Garavelli L.

Publikováno v: Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, S G, Accorsi, P, Adam, M P, Avela, K, Badura-Stronka, M, Bayat, A, Clayton-Smith, J, Cocco, I, Cordelli, D M, Cuturilo, G, Di Pisa, V, Dupont Garcia, J, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M, Iodice, A, Nielsen, J E K, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Møller, R S, Muschke, P, Otelli, V, Pantaleoni, C, Piscopo, C, Poch-Olive, M L, Prpic, I, Marín Reina, P, Raviglione, F, Ricci, E, Scarano, E, Simonte, G, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, E T, Schrier Vergano, S, Writzl, K, Callewaert, B, Savasta, S, Street, M E, Iughetti, L, Bernasconi, S, Giorgi Rossi, P & Garavelli, L 2020, ' Mowat-Wilson syndrome : growth charts ', Orphanet Journal of Rare Diseases, vol. 15, 151 . https://doi.org/10.1186/s13023-020-01418-4
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Volume 15
Issue 1
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Background: Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36eb6ffaf0310403b7e7418f5c8baafa
https://curis.ku.dk/portal/da/publications/mowatwilson-syndrome(958dfaa0-b4f4-4afb-bc1b-f587e943a8f5).html

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